Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
Identifieur interne : 001710 ( Ncbi/Merge ); précédent : 001709; suivant : 001711Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
Auteurs : Gerald F. Watts [Australie] ; Samuel Gidding [États-Unis] ; Anthony S. Wierzbicki [Royaume-Uni] ; Peter P. Toth [États-Unis] ; Rodrigo Alonso [Espagne] ; W Virgil Brown [États-Unis] ; Eric Bruckert [France] ; Joep Defesche [Pays-Bas] ; Khoo Kah Lin [Malaisie] ; Michael Livingston [Royaume-Uni] ; Pedro Mata [Espagne] ; Klaus G. Parhofer [Allemagne] ; Frederick J. Raal [Afrique du Sud] ; Raul D. Santos [Brésil] ; Eric J G. Sijbrands [Pays-Bas] ; William G. Simpson [Royaume-Uni] ; David R. Sullivan [Australie] ; Andrey V. Susekov [Russie] ; Brian Tomlinson [République populaire de Chine] ; Albert Wiegman [Pays-Bas] ; Shizuya Yamashita [Japon] ; John J P. Kastelein [Pays-Bas]Source :
- International journal of cardiology [ 1874-1754 ] ; 2014.
Descripteurs français
- KwdFr :
- MESH :
- diagnostic : Hyperlipoprotéinémie de type II.
- normes : Fondations, Guides de bonnes pratiques cliniques comme sujet, Soins aux patients.
- usage thérapeutique : Anticholestérolémiants.
- Humains, Hyperlipoprotéinémie de type II, Internationalité, Soins aux patients.
English descriptors
- KwdEn :
- MESH :
- chemical , therapeutic use : Anticholesteremic Agents.
- diagnosis : Hyperlipoproteinemia Type II.
- methods : Patient Care.
- standards : Foundations, Patient Care, Practice Guidelines as Topic.
- therapy : Hyperlipoproteinemia Type II.
- Humans, Internationality.
Abstract
Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) cholesterol and causes premature coronary heart disease. There are at least 20 million people with FH worldwide, but the majority remain undetected and current treatment is often suboptimal. To address this major gap in coronary prevention we present, from an international perspective, consensus-based guidance on the care of FH. The guidance was generated from seminars and workshops held at an international symposium. The recommendations focus on the detection, diagnosis, assessment and management of FH in adults and children, and set guidelines for clinical purposes. They also refer to best practice for cascade screening and risk notifying and testing families for FH, including use of genetic testing. Guidance on treatment is based on risk stratification, management of non-cholesterol risk factors, and safe and effective use of LDL lowering therapies. Recommendations are given on lipoprotein apheresis. The use of emerging therapies for FH is also foreshadowed. This international guidance acknowledges evidence gaps, but aims to make the best use of contemporary practice and technology to achieve the best outcomes for the care of FH. It should accordingly be employed to inform clinical judgement and be adjusted for country-specific and local health care needs and resources.
DOI: 10.1016/j.ijcard.2013.11.025
PubMed: 24418289
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pubmed:24418289Le document en format XML
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<author><name sortKey="Toth, Peter P" sort="Toth, Peter P" uniqKey="Toth P" first="Peter P" last="Toth">Peter P. Toth</name>
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<author><name sortKey="Alonso, Rodrigo" sort="Alonso, Rodrigo" uniqKey="Alonso R" first="Rodrigo" last="Alonso">Rodrigo Alonso</name>
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<author><name sortKey="Brown, W Virgil" sort="Brown, W Virgil" uniqKey="Brown W" first="W Virgil" last="Brown">W Virgil Brown</name>
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<author><name sortKey="Bruckert, Eric" sort="Bruckert, Eric" uniqKey="Bruckert E" first="Eric" last="Bruckert">Eric Bruckert</name>
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<author><name sortKey="Defesche, Joep" sort="Defesche, Joep" uniqKey="Defesche J" first="Joep" last="Defesche">Joep Defesche</name>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Laboratory for Experimental Vascular Medicine, Section of Molecular Diagnostics, Academic Medical Centre, University of Amsterdam</wicri:regionArea>
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<author><name sortKey="Lin, Khoo Kah" sort="Lin, Khoo Kah" uniqKey="Lin K" first="Khoo Kah" last="Lin">Khoo Kah Lin</name>
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<author><name sortKey="Livingston, Michael" sort="Livingston, Michael" uniqKey="Livingston M" first="Michael" last="Livingston">Michael Livingston</name>
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<country xml:lang="fr">Royaume-Uni</country>
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<author><name sortKey="Mata, Pedro" sort="Mata, Pedro" uniqKey="Mata P" first="Pedro" last="Mata">Pedro Mata</name>
<affiliation wicri:level="3"><nlm:affiliation>Fundacion Hipercolesterolemia Familiar, Madrid, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Fundacion Hipercolesterolemia Familiar, Madrid</wicri:regionArea>
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<author><name sortKey="Parhofer, Klaus G" sort="Parhofer, Klaus G" uniqKey="Parhofer K" first="Klaus G" last="Parhofer">Klaus G. Parhofer</name>
<affiliation wicri:level="4"><nlm:affiliation>Medical Department 2, Division of Metabolism and Endocrinology, Ludwig-Maximilians-University of Munich, Munich, Germany.</nlm:affiliation>
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<orgName type="university">Université Louis-et-Maximilien de Munich</orgName>
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<author><name sortKey="Raal, Frederick J" sort="Raal, Frederick J" uniqKey="Raal F" first="Frederick J" last="Raal">Frederick J. Raal</name>
<affiliation wicri:level="4"><nlm:affiliation>Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.</nlm:affiliation>
<country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg</wicri:regionArea>
<orgName type="university">Université du Witwatersrand</orgName>
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<author><name sortKey="Santos, Raul D" sort="Santos, Raul D" uniqKey="Santos R" first="Raul D" last="Santos">Raul D. Santos</name>
<affiliation wicri:level="4"><nlm:affiliation>Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School, University of Sao Paulo, Brazil.</nlm:affiliation>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School, University of Sao Paulo</wicri:regionArea>
<placeName><settlement type="city">São Paulo</settlement>
<region type="state">État de São Paulo</region>
</placeName>
<orgName type="university">Université de São Paulo</orgName>
</affiliation>
</author>
<author><name sortKey="Sijbrands, Eric J G" sort="Sijbrands, Eric J G" uniqKey="Sijbrands E" first="Eric J G" last="Sijbrands">Eric J G. Sijbrands</name>
<affiliation wicri:level="3"><nlm:affiliation>Section of Pharmacology, Vascular and Metabolic Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University, Rotterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Section of Pharmacology, Vascular and Metabolic Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University, Rotterdam</wicri:regionArea>
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<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
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<author><name sortKey="Simpson, William G" sort="Simpson, William G" uniqKey="Simpson W" first="William G" last="Simpson">William G. Simpson</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Biochemistry, Aberdeen Royal Infirmary, University of Aberdeen, Aberdeen, Scotland, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Biochemistry, Aberdeen Royal Infirmary, University of Aberdeen, Aberdeen, Scotland</wicri:regionArea>
<wicri:noRegion>Scotland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sullivan, David R" sort="Sullivan, David R" uniqKey="Sullivan D" first="David R" last="Sullivan">David R. Sullivan</name>
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<author><name sortKey="Susekov, Andrey V" sort="Susekov, Andrey V" uniqKey="Susekov A" first="Andrey V" last="Susekov">Andrey V. Susekov</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Clinical Lipidology, Department of Atherosclerosis, Cardiology Research Complex, Ministry of Health of Russian Federation, Moscow, Russia.</nlm:affiliation>
<country xml:lang="fr">Russie</country>
<wicri:regionArea>Laboratory of Clinical Lipidology, Department of Atherosclerosis, Cardiology Research Complex, Ministry of Health of Russian Federation, Moscow</wicri:regionArea>
<placeName><settlement type="city">Moscou</settlement>
<region>District fédéral central</region>
</placeName>
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<author><name sortKey="Tomlinson, Brian" sort="Tomlinson, Brian" uniqKey="Tomlinson B" first="Brian" last="Tomlinson">Brian Tomlinson</name>
<affiliation wicri:level="4"><nlm:affiliation>Division of Clinical Pharmacology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.</nlm:affiliation>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Division of Clinical Pharmacology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong</wicri:regionArea>
<orgName type="university">Université chinoise de Hong Kong</orgName>
<placeName><settlement type="city">Sha Tin</settlement>
</placeName>
</affiliation>
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<author><name sortKey="Wiegman, Albert" sort="Wiegman, Albert" uniqKey="Wiegman A" first="Albert" last="Wiegman">Albert Wiegman</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Paediatrics, Academic Medical Centre, University of Amsterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Paediatrics, Academic Medical Centre, University of Amsterdam</wicri:regionArea>
<placeName><settlement type="city">Amsterdam</settlement>
<region>Hollande-Septentrionale</region>
</placeName>
<orgName type="university">Université d'Amsterdam</orgName>
</affiliation>
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<author><name sortKey="Yamashita, Shizuya" sort="Yamashita, Shizuya" uniqKey="Yamashita S" first="Shizuya" last="Yamashita">Shizuya Yamashita</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Community Medicine, Osaka University Graduate School of Medicine, Osaka University, Japan; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka University, Japan.</nlm:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Community Medicine, Osaka University Graduate School of Medicine, Osaka University, Japan; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka University</wicri:regionArea>
<wicri:noRegion>Osaka University</wicri:noRegion>
</affiliation>
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<author><name sortKey="Kastelein, John J P" sort="Kastelein, John J P" uniqKey="Kastelein J" first="John J P" last="Kastelein">John J P. Kastelein</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Vascular Medicine, Academic Medical Centre, University of Amsterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Vascular Medicine, Academic Medical Centre, University of Amsterdam</wicri:regionArea>
<placeName><settlement type="city">Amsterdam</settlement>
<region>Hollande-Septentrionale</region>
</placeName>
<orgName type="university">Université d'Amsterdam</orgName>
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<author><name sortKey="Watts, Gerald F" sort="Watts, Gerald F" uniqKey="Watts G" first="Gerald F" last="Watts">Gerald F. Watts</name>
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<country xml:lang="fr">Australie</country>
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<author><name sortKey="Gidding, Samuel" sort="Gidding, Samuel" uniqKey="Gidding S" first="Samuel" last="Gidding">Samuel Gidding</name>
<affiliation wicri:level="2"><nlm:affiliation>Cardiology Division, Nemours Cardiac Center, A. I. duPont Hospital for Children, Wilmington, DE, USA; Jefferson Medical College, Philadelphia, PA, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Cardiology Division, Nemours Cardiac Center, A. I. duPont Hospital for Children, Wilmington, DE, USA; Jefferson Medical College, Philadelphia, PA</wicri:regionArea>
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<author><name sortKey="Wierzbicki, Anthony S" sort="Wierzbicki, Anthony S" uniqKey="Wierzbicki A" first="Anthony S" last="Wierzbicki">Anthony S. Wierzbicki</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Metabolic Medicine and Chemical Pathology, Guy's & St Thomas Hospitals, NHS Foundation Trust, London, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Metabolic Medicine and Chemical Pathology, Guy's & St Thomas Hospitals, NHS Foundation Trust, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
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<author><name sortKey="Toth, Peter P" sort="Toth, Peter P" uniqKey="Toth P" first="Peter P" last="Toth">Peter P. Toth</name>
<affiliation wicri:level="2"><nlm:affiliation>CGH Medical Centre, Sterling Illinois, University of Illinois College of Medicine, Peoria, USA; Illinois Michigan State University College of Osteopathic Medicine, East Lansing, MI, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>CGH Medical Centre, Sterling Illinois, University of Illinois College of Medicine, Peoria, USA; Illinois Michigan State University College of Osteopathic Medicine, East Lansing, MI</wicri:regionArea>
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<author><name sortKey="Alonso, Rodrigo" sort="Alonso, Rodrigo" uniqKey="Alonso R" first="Rodrigo" last="Alonso">Rodrigo Alonso</name>
<affiliation wicri:level="3"><nlm:affiliation>Lipid Clinic, Department of Internal Medicine, Fundacion Jimenez Diaz, Madrid, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Lipid Clinic, Department of Internal Medicine, Fundacion Jimenez Diaz, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
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<author><name sortKey="Brown, W Virgil" sort="Brown, W Virgil" uniqKey="Brown W" first="W Virgil" last="Brown">W Virgil Brown</name>
<affiliation wicri:level="2"><nlm:affiliation>Emory University School of Medicine, Emory University, Atlanta, GA, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Emory University School of Medicine, Emory University, Atlanta, GA</wicri:regionArea>
<placeName><region type="state">Géorgie (États-Unis)</region>
</placeName>
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<author><name sortKey="Bruckert, Eric" sort="Bruckert, Eric" uniqKey="Bruckert E" first="Eric" last="Bruckert">Eric Bruckert</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Endocrinology and Prevention of Cardiovascular Disease, Hôpital Pitié-Salpêtrière, University of Paris VI, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Endocrinology and Prevention of Cardiovascular Disease, Hôpital Pitié-Salpêtrière, University of Paris VI, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
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<author><name sortKey="Defesche, Joep" sort="Defesche, Joep" uniqKey="Defesche J" first="Joep" last="Defesche">Joep Defesche</name>
<affiliation wicri:level="4"><nlm:affiliation>Laboratory for Experimental Vascular Medicine, Section of Molecular Diagnostics, Academic Medical Centre, University of Amsterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Laboratory for Experimental Vascular Medicine, Section of Molecular Diagnostics, Academic Medical Centre, University of Amsterdam</wicri:regionArea>
<placeName><settlement type="city">Amsterdam</settlement>
<region>Hollande-Septentrionale</region>
</placeName>
<orgName type="university">Université d'Amsterdam</orgName>
</affiliation>
</author>
<author><name sortKey="Lin, Khoo Kah" sort="Lin, Khoo Kah" uniqKey="Lin K" first="Khoo Kah" last="Lin">Khoo Kah Lin</name>
<affiliation wicri:level="1"><nlm:affiliation>Pontai Medical Centre, Heart Foundation of Malaysia, Kuala Lumpur, Malaysia.</nlm:affiliation>
<country xml:lang="fr">Malaisie</country>
<wicri:regionArea>Pontai Medical Centre, Heart Foundation of Malaysia, Kuala Lumpur</wicri:regionArea>
<wicri:noRegion>Kuala Lumpur</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Livingston, Michael" sort="Livingston, Michael" uniqKey="Livingston M" first="Michael" last="Livingston">Michael Livingston</name>
<affiliation wicri:level="1"><nlm:affiliation>The International FH Foundation, St Andrews Court, Thame, Oxfordshire, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>The International FH Foundation, St Andrews Court, Thame, Oxfordshire</wicri:regionArea>
<wicri:noRegion>Oxfordshire</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mata, Pedro" sort="Mata, Pedro" uniqKey="Mata P" first="Pedro" last="Mata">Pedro Mata</name>
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<region type="district" nuts="2">District de Haute-Bavière</region>
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<country xml:lang="fr">Afrique du Sud</country>
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<placeName><settlement type="city">São Paulo</settlement>
<region type="state">État de São Paulo</region>
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<orgName type="university">Université de São Paulo</orgName>
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<author><name sortKey="Sijbrands, Eric J G" sort="Sijbrands, Eric J G" uniqKey="Sijbrands E" first="Eric J G" last="Sijbrands">Eric J G. Sijbrands</name>
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<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Section of Pharmacology, Vascular and Metabolic Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
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<author><name sortKey="Simpson, William G" sort="Simpson, William G" uniqKey="Simpson W" first="William G" last="Simpson">William G. Simpson</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Biochemistry, Aberdeen Royal Infirmary, University of Aberdeen, Aberdeen, Scotland, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Biochemistry, Aberdeen Royal Infirmary, University of Aberdeen, Aberdeen, Scotland</wicri:regionArea>
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<author><name sortKey="Sullivan, David R" sort="Sullivan, David R" uniqKey="Sullivan D" first="David R" last="Sullivan">David R. Sullivan</name>
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<wicri:regionArea>Lipid Clinic and Department of Biochemistry, Royal Prince Alfred Hospital, University of Sydney, New South Wales</wicri:regionArea>
<orgName type="university">Université de Sydney</orgName>
<placeName><settlement type="city">Sydney</settlement>
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<author><name sortKey="Susekov, Andrey V" sort="Susekov, Andrey V" uniqKey="Susekov A" first="Andrey V" last="Susekov">Andrey V. Susekov</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratory of Clinical Lipidology, Department of Atherosclerosis, Cardiology Research Complex, Ministry of Health of Russian Federation, Moscow, Russia.</nlm:affiliation>
<country xml:lang="fr">Russie</country>
<wicri:regionArea>Laboratory of Clinical Lipidology, Department of Atherosclerosis, Cardiology Research Complex, Ministry of Health of Russian Federation, Moscow</wicri:regionArea>
<placeName><settlement type="city">Moscou</settlement>
<region>District fédéral central</region>
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<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Division of Clinical Pharmacology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong</wicri:regionArea>
<orgName type="university">Université chinoise de Hong Kong</orgName>
<placeName><settlement type="city">Sha Tin</settlement>
</placeName>
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<author><name sortKey="Wiegman, Albert" sort="Wiegman, Albert" uniqKey="Wiegman A" first="Albert" last="Wiegman">Albert Wiegman</name>
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<wicri:regionArea>Department of Paediatrics, Academic Medical Centre, University of Amsterdam</wicri:regionArea>
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<author><name sortKey="Yamashita, Shizuya" sort="Yamashita, Shizuya" uniqKey="Yamashita S" first="Shizuya" last="Yamashita">Shizuya Yamashita</name>
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<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Community Medicine, Osaka University Graduate School of Medicine, Osaka University, Japan; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka University</wicri:regionArea>
<wicri:noRegion>Osaka University</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kastelein, John J P" sort="Kastelein, John J P" uniqKey="Kastelein J" first="John J P" last="Kastelein">John J P. Kastelein</name>
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<wicri:regionArea>Department of Vascular Medicine, Academic Medical Centre, University of Amsterdam</wicri:regionArea>
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<series><title level="j">International journal of cardiology</title>
<idno type="eISSN">1874-1754</idno>
<imprint><date when="2014" type="published">2014</date>
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<front><div type="abstract" xml:lang="en">Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) cholesterol and causes premature coronary heart disease. There are at least 20 million people with FH worldwide, but the majority remain undetected and current treatment is often suboptimal. To address this major gap in coronary prevention we present, from an international perspective, consensus-based guidance on the care of FH. The guidance was generated from seminars and workshops held at an international symposium. The recommendations focus on the detection, diagnosis, assessment and management of FH in adults and children, and set guidelines for clinical purposes. They also refer to best practice for cascade screening and risk notifying and testing families for FH, including use of genetic testing. Guidance on treatment is based on risk stratification, management of non-cholesterol risk factors, and safe and effective use of LDL lowering therapies. Recommendations are given on lipoprotein apheresis. The use of emerging therapies for FH is also foreshadowed. This international guidance acknowledges evidence gaps, but aims to make the best use of contemporary practice and technology to achieve the best outcomes for the care of FH. It should accordingly be employed to inform clinical judgement and be adjusted for country-specific and local health care needs and resources.</div>
</front>
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<DateCreated><Year>2014</Year>
<Month>01</Month>
<Day>27</Day>
</DateCreated>
<DateCompleted><Year>2014</Year>
<Month>10</Month>
<Day>20</Day>
</DateCompleted>
<DateRevised><Year>2014</Year>
<Month>01</Month>
<Day>27</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1874-1754</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>171</Volume>
<Issue>3</Issue>
<PubDate><Year>2014</Year>
<Month>Feb</Month>
<Day>15</Day>
</PubDate>
</JournalIssue>
<Title>International journal of cardiology</Title>
<ISOAbbreviation>Int. J. Cardiol.</ISOAbbreviation>
</Journal>
<ArticleTitle>Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.</ArticleTitle>
<Pagination><MedlinePgn>309-25</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ijcard.2013.11.025</ELocationID>
<ELocationID EIdType="pii" ValidYN="Y">S0167-5273(13)01997-9</ELocationID>
<Abstract><AbstractText>Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) cholesterol and causes premature coronary heart disease. There are at least 20 million people with FH worldwide, but the majority remain undetected and current treatment is often suboptimal. To address this major gap in coronary prevention we present, from an international perspective, consensus-based guidance on the care of FH. The guidance was generated from seminars and workshops held at an international symposium. The recommendations focus on the detection, diagnosis, assessment and management of FH in adults and children, and set guidelines for clinical purposes. They also refer to best practice for cascade screening and risk notifying and testing families for FH, including use of genetic testing. Guidance on treatment is based on risk stratification, management of non-cholesterol risk factors, and safe and effective use of LDL lowering therapies. Recommendations are given on lipoprotein apheresis. The use of emerging therapies for FH is also foreshadowed. This international guidance acknowledges evidence gaps, but aims to make the best use of contemporary practice and technology to achieve the best outcomes for the care of FH. It should accordingly be employed to inform clinical judgement and be adjusted for country-specific and local health care needs and resources.</AbstractText>
<CopyrightInformation>Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Watts</LastName>
<ForeName>Gerald F</ForeName>
<Initials>GF</Initials>
<AffiliationInfo><Affiliation>Cardiometabolic Service, Cardiovascular Medicine, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, Australia. Electronic address: gerald.watts@uwa.edu.au.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Gidding</LastName>
<ForeName>Samuel</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Cardiology Division, Nemours Cardiac Center, A. I. duPont Hospital for Children, Wilmington, DE, USA; Jefferson Medical College, Philadelphia, PA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Wierzbicki</LastName>
<ForeName>Anthony S</ForeName>
<Initials>AS</Initials>
<AffiliationInfo><Affiliation>Department of Metabolic Medicine and Chemical Pathology, Guy's & St Thomas Hospitals, NHS Foundation Trust, London, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Toth</LastName>
<ForeName>Peter P</ForeName>
<Initials>PP</Initials>
<AffiliationInfo><Affiliation>CGH Medical Centre, Sterling Illinois, University of Illinois College of Medicine, Peoria, USA; Illinois Michigan State University College of Osteopathic Medicine, East Lansing, MI, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Alonso</LastName>
<ForeName>Rodrigo</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>Lipid Clinic, Department of Internal Medicine, Fundacion Jimenez Diaz, Madrid, Spain.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Brown</LastName>
<ForeName>W Virgil</ForeName>
<Initials>WV</Initials>
<AffiliationInfo><Affiliation>Emory University School of Medicine, Emory University, Atlanta, GA, USA.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bruckert</LastName>
<ForeName>Eric</ForeName>
<Initials>E</Initials>
<AffiliationInfo><Affiliation>Department of Endocrinology and Prevention of Cardiovascular Disease, Hôpital Pitié-Salpêtrière, University of Paris VI, Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Defesche</LastName>
<ForeName>Joep</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>Laboratory for Experimental Vascular Medicine, Section of Molecular Diagnostics, Academic Medical Centre, University of Amsterdam, The Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lin</LastName>
<ForeName>Khoo Kah</ForeName>
<Initials>KK</Initials>
<AffiliationInfo><Affiliation>Pontai Medical Centre, Heart Foundation of Malaysia, Kuala Lumpur, Malaysia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Livingston</LastName>
<ForeName>Michael</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>The International FH Foundation, St Andrews Court, Thame, Oxfordshire, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Mata</LastName>
<ForeName>Pedro</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>Fundacion Hipercolesterolemia Familiar, Madrid, Spain.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Parhofer</LastName>
<ForeName>Klaus G</ForeName>
<Initials>KG</Initials>
<AffiliationInfo><Affiliation>Medical Department 2, Division of Metabolism and Endocrinology, Ludwig-Maximilians-University of Munich, Munich, Germany.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Raal</LastName>
<ForeName>Frederick J</ForeName>
<Initials>FJ</Initials>
<AffiliationInfo><Affiliation>Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Santos</LastName>
<ForeName>Raul D</ForeName>
<Initials>RD</Initials>
<AffiliationInfo><Affiliation>Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School, University of Sao Paulo, Brazil.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Sijbrands</LastName>
<ForeName>Eric J G</ForeName>
<Initials>EJ</Initials>
<AffiliationInfo><Affiliation>Section of Pharmacology, Vascular and Metabolic Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University, Rotterdam, The Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Simpson</LastName>
<ForeName>William G</ForeName>
<Initials>WG</Initials>
<AffiliationInfo><Affiliation>Department of Clinical Biochemistry, Aberdeen Royal Infirmary, University of Aberdeen, Aberdeen, Scotland, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Sullivan</LastName>
<ForeName>David R</ForeName>
<Initials>DR</Initials>
<AffiliationInfo><Affiliation>Lipid Clinic and Department of Biochemistry, Royal Prince Alfred Hospital, University of Sydney, New South Wales, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Susekov</LastName>
<ForeName>Andrey V</ForeName>
<Initials>AV</Initials>
<AffiliationInfo><Affiliation>Laboratory of Clinical Lipidology, Department of Atherosclerosis, Cardiology Research Complex, Ministry of Health of Russian Federation, Moscow, Russia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Tomlinson</LastName>
<ForeName>Brian</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>Division of Clinical Pharmacology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Wiegman</LastName>
<ForeName>Albert</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Department of Paediatrics, Academic Medical Centre, University of Amsterdam, The Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Yamashita</LastName>
<ForeName>Shizuya</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Department of Community Medicine, Osaka University Graduate School of Medicine, Osaka University, Japan; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka University, Japan.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kastelein</LastName>
<ForeName>John J P</ForeName>
<Initials>JJ</Initials>
<AffiliationInfo><Affiliation>Department of Vascular Medicine, Academic Medical Centre, University of Amsterdam, The Netherlands.</Affiliation>
</AffiliationInfo>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D016454">Review</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2013</Year>
<Month>11</Month>
<Day>20</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>Netherlands</Country>
<MedlineTA>Int J Cardiol</MedlineTA>
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</Chemical>
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<QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName>
</MeshHeading>
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<KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Assessment</Keyword>
<Keyword MajorTopicYN="N">Diagnosis</Keyword>
<Keyword MajorTopicYN="N">Familial hypercholesterolaemia</Keyword>
<Keyword MajorTopicYN="N">Models of care</Keyword>
<Keyword MajorTopicYN="N">Screening</Keyword>
<Keyword MajorTopicYN="N">Treatment</Keyword>
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<Month>10</Month>
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<li>Allemagne</li>
<li>Australie</li>
<li>Brésil</li>
<li>Espagne</li>
<li>France</li>
<li>Japon</li>
<li>Malaisie</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>Russie</li>
<li>République populaire de Chine</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Bavière</li>
<li>Communauté de Madrid</li>
<li>District de Haute-Bavière</li>
<li>District fédéral central</li>
<li>Gauteng</li>
<li>Grand Londres</li>
<li>Géorgie (États-Unis)</li>
<li>Hollande-Méridionale</li>
<li>Hollande-Septentrionale</li>
<li>Michigan</li>
<li>Nouvelle-Galles du Sud</li>
<li>Pennsylvanie</li>
<li>État de São Paulo</li>
<li>Île-de-France</li>
</region>
<settlement><li>Amsterdam</li>
<li>Johannesbourg</li>
<li>Londres</li>
<li>Madrid</li>
<li>Moscou</li>
<li>Munich</li>
<li>Paris</li>
<li>Rotterdam</li>
<li>Sha Tin</li>
<li>Sydney</li>
<li>São Paulo</li>
</settlement>
<orgName><li>Université Louis-et-Maximilien de Munich</li>
<li>Université chinoise de Hong Kong</li>
<li>Université d'Amsterdam</li>
<li>Université de Sydney</li>
<li>Université de São Paulo</li>
<li>Université du Witwatersrand</li>
</orgName>
</list>
<tree><country name="Australie"><noRegion><name sortKey="Watts, Gerald F" sort="Watts, Gerald F" uniqKey="Watts G" first="Gerald F" last="Watts">Gerald F. Watts</name>
</noRegion>
<name sortKey="Sullivan, David R" sort="Sullivan, David R" uniqKey="Sullivan D" first="David R" last="Sullivan">David R. Sullivan</name>
</country>
<country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Gidding, Samuel" sort="Gidding, Samuel" uniqKey="Gidding S" first="Samuel" last="Gidding">Samuel Gidding</name>
</region>
<name sortKey="Brown, W Virgil" sort="Brown, W Virgil" uniqKey="Brown W" first="W Virgil" last="Brown">W Virgil Brown</name>
<name sortKey="Toth, Peter P" sort="Toth, Peter P" uniqKey="Toth P" first="Peter P" last="Toth">Peter P. Toth</name>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Wierzbicki, Anthony S" sort="Wierzbicki, Anthony S" uniqKey="Wierzbicki A" first="Anthony S" last="Wierzbicki">Anthony S. Wierzbicki</name>
</region>
<name sortKey="Livingston, Michael" sort="Livingston, Michael" uniqKey="Livingston M" first="Michael" last="Livingston">Michael Livingston</name>
<name sortKey="Simpson, William G" sort="Simpson, William G" uniqKey="Simpson W" first="William G" last="Simpson">William G. Simpson</name>
</country>
<country name="Espagne"><region name="Communauté de Madrid"><name sortKey="Alonso, Rodrigo" sort="Alonso, Rodrigo" uniqKey="Alonso R" first="Rodrigo" last="Alonso">Rodrigo Alonso</name>
</region>
<name sortKey="Mata, Pedro" sort="Mata, Pedro" uniqKey="Mata P" first="Pedro" last="Mata">Pedro Mata</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Bruckert, Eric" sort="Bruckert, Eric" uniqKey="Bruckert E" first="Eric" last="Bruckert">Eric Bruckert</name>
</region>
</country>
<country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Defesche, Joep" sort="Defesche, Joep" uniqKey="Defesche J" first="Joep" last="Defesche">Joep Defesche</name>
</region>
<name sortKey="Kastelein, John J P" sort="Kastelein, John J P" uniqKey="Kastelein J" first="John J P" last="Kastelein">John J P. Kastelein</name>
<name sortKey="Sijbrands, Eric J G" sort="Sijbrands, Eric J G" uniqKey="Sijbrands E" first="Eric J G" last="Sijbrands">Eric J G. Sijbrands</name>
<name sortKey="Wiegman, Albert" sort="Wiegman, Albert" uniqKey="Wiegman A" first="Albert" last="Wiegman">Albert Wiegman</name>
</country>
<country name="Malaisie"><noRegion><name sortKey="Lin, Khoo Kah" sort="Lin, Khoo Kah" uniqKey="Lin K" first="Khoo Kah" last="Lin">Khoo Kah Lin</name>
</noRegion>
</country>
<country name="Allemagne"><region name="Bavière"><name sortKey="Parhofer, Klaus G" sort="Parhofer, Klaus G" uniqKey="Parhofer K" first="Klaus G" last="Parhofer">Klaus G. Parhofer</name>
</region>
</country>
<country name="Afrique du Sud"><region name="Gauteng"><name sortKey="Raal, Frederick J" sort="Raal, Frederick J" uniqKey="Raal F" first="Frederick J" last="Raal">Frederick J. Raal</name>
</region>
</country>
<country name="Brésil"><region name="État de São Paulo"><name sortKey="Santos, Raul D" sort="Santos, Raul D" uniqKey="Santos R" first="Raul D" last="Santos">Raul D. Santos</name>
</region>
</country>
<country name="Russie"><region name="District fédéral central"><name sortKey="Susekov, Andrey V" sort="Susekov, Andrey V" uniqKey="Susekov A" first="Andrey V" last="Susekov">Andrey V. Susekov</name>
</region>
</country>
<country name="République populaire de Chine"><noRegion><name sortKey="Tomlinson, Brian" sort="Tomlinson, Brian" uniqKey="Tomlinson B" first="Brian" last="Tomlinson">Brian Tomlinson</name>
</noRegion>
</country>
<country name="Japon"><noRegion><name sortKey="Yamashita, Shizuya" sort="Yamashita, Shizuya" uniqKey="Yamashita S" first="Shizuya" last="Yamashita">Shizuya Yamashita</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
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